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Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy

Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describ...

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Autori principali: Sims-Williams, Hugh P, Nye, Helen J, Walker, Paul R
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3603541/
https://ncbi.nlm.nih.gov/pubmed/23329710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007574
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